Concepedia

JoAnn Bergoffen

JB

Statistics

Publications

12

Citations

1.7K

H-Index

11

Active since

1992

Affiliations

Children's Hospital of Philadelphia(Current)

University of Pennsylvania

University of Aberdeen

Kaiser Permanente

Kaiser Permanente Walnut Creek Medical Center

JoAnn Bergoffen is an author at Children's Hospital of Philadelphia specializing in genetics, life sciences, and medical genetics.

Publications per year

1992–2019

12

Publications

12

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K citations

, , +16

Clinical and molecular characterization of patients with distal 11q deletions.

Laura A. Penny, Marie L. Dell’Aquila, Marilyn C. Jones et al. · PubMed · 1995 · 182 citations

, , +12

Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel et al. · Human Mutation · 2011 · 94 citations · Full text

, , +17

Linkage localization of X-linked Charcot-Marie-Tooth disease.

JoAnn Bergoffen, James A. Trofatter, Jeffery M. Vance et al. · PubMed · 1993 · 83 citations

, , +5

Diaphragmatic hernia in tetrasomy 12p mosaicism

JoAnn Bergoffen, Hope H. Punnett, Tamberly J. Campbell et al. · The Journal of Pediatrics · 1993 · 41 citations

, , +4

1–5 of 12